Development of Charcot Marie Tooth Disease (CMT) Pediatric Scale for Children With CMT (INC-6603)

Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth

The primary goal of this project is to develop and test a Charcot Marie Tooth disease (CMT) Pediatric Scale for use in evaluation in natural history CMT study.

Study Overview

• Status: Recruiting
• Conditions: Charcot Marie Tooth Disease

Detailed Description

This project is to develop a new CMT Pediatric Scale (CMTPeds) for Children with CMT. Although there is a validated score (the CMTNS) which measures disease severity for CMT, it is not always applicable to children due to their limited ability to relay information about their symptoms. The CMTPeds scale is being developed and validated in order to measure disease severity in children and have outcome measures available for future clinical trials. Children (defined as 21 and under) being evaluated will be asked to perform functional tasks such as using stairs, walking in a hallway, and performing hand function tests. This information will be used to validate the CMTPeds score. It is important to have validated instruments to measure disease severity in childhood so these can be used with clinical treatment trials are available.

• Study Type: Observational
• Enrollment (Anticipated): 500

Contacts and Locations

Study Locations

• Australia
  • New South Wales
    • Sydney, New South Wales, Australia, 2145
      • Recruiting
      • Children's Hospital of Westmead
• Italy
  • Milan, Italy
    • Recruiting
    • C. Fondazione IRCCS Istituto Neurologico Carlo Besta
• United Kingdom
  • England
    • London, England, United Kingdom, WC1N 3BG
      • Recruiting
      • National Hospital of Neurology and Neurosurgery
  • UK
    • London, UK, United Kingdom
      • Recruiting
      • Dubowitz Neuromuscular Centre
• United States
  • California
    • Palo Alto, California, United States, 94305
      • Recruiting
      • Stanford University
  • Connecticut
    • Hartford, Connecticut, United States, 06106
      • Recruiting
      • University of Connecticut/Connecticut Children's Medical Center
  • Florida
    • Orlando, Florida, United States, 32827
      • Recruiting
      • Nemours Children's Clinic
  • Iowa
    • Iowa City, Iowa, United States, 52242
      • Recruiting
      • University of Iowa
  • Michigan
    • Ann Arbor, Michigan, United States, 48109
      • Recruiting
      • University of Michigan
  • New York
    • Rochester, New York, United States, 14642
      • Recruiting
      • University of Rochester
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • Recruiting
      • Children's Hospital of Philadelphia

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 21 years (ADULT, CHILD)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients who are 21 years of age and under who are also enrolled in the 6601 study and have performed all tasks to complete the CMT Peds Scale will be recruited for participation. Participation entails allow the information collected in the 6601 study be used for validation in the current study.

Description

Inclusion Criteria:

All patients MUST be seen in person at one of the participating centers for enrollment in this study.

• Children (< 21 years of age)
• Known or probable inherited neuropathies classified as CMT1, CMT2, or CMT4

Exclusion Criteria:

• Known diagnoses of acquired neuropathy including toxic (e. g. medication related neuropathies); metabolic (e.g. diabetic), immune mediated or inflammatory [acute inflammatory demyelinating polyradiculoneuropathy (AIDP) or chronic inflammatory demyelinating polyneuropathy (CIDP)] polyneuropathies; neuropathy related to leukodystrophy, congenital muscular dystrophy; and patients with severe general medical conditions.
• Entirely normal conduction velocities of upper and lower limbs as this suggests that the subject may not have a neuropathy.

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Pediatric patients; All patients 21 years of age and under who are enrolled in the 6601 study and have undergone the pediatric scale tests.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
CMT Peds Scale Part 1: Symptoms	The CMT Peds Scale Symptoms include foot and hand symptoms.	1 year
CMT Peds Score Part 2: Foot and Ankle Involvement	Foot and ankle involvement includes foot posture index, range of ankle dorsiflexion, foot drop present/absent, and whether or not difficulty heel/toe walking.	1 year
CMT Peds Scale Part 3: Hand dexterity	Hand dexterity involves hand dexterity testing and the nine-hole peg test.	1 year
CMT Peds Scale Part 4: Hand strength	Hand strength includes grip strength, thumb-index pinch, and three point pinch.	1 year
CMT Peds Scale Part 5: Foot Strength	Foot strength includes the strength of plantar- and dorsi-flexion, eversion, and inversion.	1 year
CMT Peds Score Part 6: Sensation	Sensation includes pinprick and vibration sensations.	1 year
CMT Peds Scale Part 7: Balance	Balance is assessed by the Bruininks-Oseretsky Test of Motor Proficiency, 2nd Edition (BOT-2).	1 year
CMT Peds Scale Part 8: Motor Function	Motor function assessment includes long jump, 10 meter run/walk, stair climb, stair descend, and 6 minute walk test.	1 year

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Evaluate CMT Pediatric Scale (CMT Peds Scale) in CMT natural history study	The sections of the CMT Peds Scale which are found to be clinically/functionally useful after one year of analysis will be carried forward for all pediatric patients every 6 months to one year.	6 months to 1 year

Collaborators and Investigators

• Sponsor: University of Iowa
• Collaborators: Children's Hospital of Philadelphia; University College London Hospitals; National Institute of Neurological Disorders and Stroke (NINDS); University of Rochester; Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta; Nemours Children's Clinic; Sydney Children's Hospitals Network; Muscular Dystrophy Association

Publications and helpful links

Helpful Links

• Inherited Neuropathy Consortium Website

Study record dates

Study Major Dates

• Study Start (ACTUAL): April 1, 2010
• Primary Completion (ANTICIPATED): December 1, 2024
• Study Completion (ANTICIPATED): December 1, 2024

Study Registration Dates

• First Submitted: August 9, 2010
• First Submitted That Met QC Criteria: September 15, 2010
• First Posted (ESTIMATE): September 16, 2010

Study Record Updates

• Last Update Posted (ESTIMATE): February 14, 2023
• Last Update Submitted That Met QC Criteria: February 10, 2023
• Last Verified: February 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Congenital Abnormalities; Genetic Diseases, Inborn; Neuromuscular Diseases; Stomatognathic Diseases; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Nervous System Malformations; Polyneuropathies; Tooth Diseases; Nerve Compression Syndromes; Charcot-Marie-Tooth Disease; Hereditary Sensory and Motor Neuropathy
• Other Study ID Numbers: INC-6603; 1U54NS065712-01 (NIH)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: De-identified RDCRN data is submitted to an ORDR-designated repository. For the current grant cycle, that repository has been dbGaP.
• IPD Sharing Time Frame: (For Observational/Longitudinal/Natural History/Epidemiology studies): For the current grant cycle, available data will be released to the repository and will become available to the scientific community one year after publication of planned analyses, or after a period of 5 years from the date when the data were collected, whichever comes first.
• IPD Sharing Access Criteria: For the current grant cycle, once de-identified data is posted on dbGaP, a summary of the study is posted and individual participant data is accessed via a request through dbGaP.
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; SAP; ICF; ANALYTIC_CODE; CSR